Canonical Allele Identifier: CA379472145

Gene: TPP1

Linked Data

• MyVariant Identifiers: chr11:g.6635880T>A (hg19) ; chr11:g.6614649T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6614649T>A , CM000673.2:g.6614649T>A	GRCh38
NC_000011.9:g.6635880T>A , CM000673.1:g.6635880T>A	GRCh37
NC_000011.8:g.6592456T>A	NCBI36
NG_008653.1:g.9813A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682424.1:c.1475A>T	ENSP00000507321.1:p.Glu492Val
ENST00000299427.12:c.1589A>T MANE Select	ENSP00000299427.6:p.Glu530Val
ENST00000524611.2:n.628A>T
ENST00000524924.2:n.709A>T
ENST00000533371.6:c.860A>T	ENSP00000437066.1:p.Glu287Val
ENST00000642892.1:c.860A>T	ENSP00000494165.1:p.Glu287Val
ENST00000643342.1:c.662A>T
ENST00000643439.1:c.*1329A>T	ENSP00000495849.1:n.*1329A>T
ENST00000643479.1:n.1775A>T
ENST00000643516.1:c.1098A>T
ENST00000644218.1:c.1400A>T	ENSP00000493574.1:p.Glu467Val
ENST00000644683.1:c.*1042A>T	ENSP00000494085.1:n.*1042A>T
ENST00000644810.1:c.1310A>T	ENSP00000495895.1:p.Glu437Val
ENST00000644831.1:n.1765A>T
ENST00000644933.1:c.*455A>T	ENSP00000496133.1:n.*455A>T
ENST00000645285.1:c.*455A>T	ENSP00000495058.1:n.*455A>T
ENST00000645331.1:n.2794A>T
ENST00000645620.1:c.860A>T	ENSP00000493657.1:p.Glu287Val
ENST00000646691.1:n.1476A>T
ENST00000646777.1:n.1922A>T
ENST00000647016.1:n.2069A>T
ENST00000647152.1:c.860A>T	ENSP00000495893.1:p.Glu287Val
ENST00000647209.1:c.*1458A>T	ENSP00000495558.1:n.*1458A>T
ENST00000647346.1:n.2609A>T
ENST00000299427.10:c.1589A>T	ENSP00000299427.6:p.Glu530Val
ENST00000524611.1:n.467A>T
ENST00000533371.5:c.860A>T	ENSP00000437066.1:p.Glu287Val
ENST00000611494.4:c.1589A>T	ENSP00000484546.1:p.Glu530Val
NM_000391.3:c.1589A>T	NP_000382.3:p.Glu530Val
NM_000391.4:c.1589A>T MANE Select	NP_000382.3:p.Glu530Val